Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndrome.

Bénit, Paule

Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndrome. [electronic resource] - Human genetics May 2003 - 563-6 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

0340-6717

10.1007/s00439-002-0884-2 doi


Codon, Nonsense
Electron Transport Complex I
Female
Humans
Leigh Disease--genetics
Liver--enzymology
Male
Microsatellite Repeats
Mitochondrial Diseases--genetics
Muscle, Skeletal--enzymology
NADH Dehydrogenase
NADH, NADPH Oxidoreductases--deficiency
Pedigree